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| created at |
2024-09-23 16:23:50 UTC |
| updated at |
2024-09-23 18:22:39 UTC |
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Terms for rare diseases as defined in ORDO.
The entries were initially sourced from the ORDO version 2024-07-03 as stored in BioPortal.
Namespace: http://www.orpha.net/ORDO/
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20,514 entries
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There is 0 pattern entry.
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Gnathodiaphyseal dysplasia
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Orphanet_53697 |
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clEDS type 2
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Orphanet_536532 |
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B3GALT6-related spondylodysplastic EDS
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Orphanet_536467 |
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B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
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Orphanet_536467 |
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Arthrogryposis-anterior horn cell disease syndrome
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Orphanet_53696 |
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Congenital lactase deficiency
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Orphanet_53690 |
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Congenital chloride diarrhea
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Orphanet_53689 |
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Disseminated lupus erythematosus
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Orphanet_536 |
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Systemic lupus erythematosus
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Orphanet_536 |
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Hyaline body myopathy
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Orphanet_53698 |
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Myosin storage myopathy
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Orphanet_53698 |
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Congenital cornea plana
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Orphanet_53691 |
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Ehlers-Danlos syndrome progeroid type 2
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Orphanet_536467 |
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Spondylodysplastic Ehlers-Danlos syndrome
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Orphanet_536471 |
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EDS/myopathy overlap syndrome
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Orphanet_536516 |
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